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Moyamoya Disease Genetic Research Update (Read 2531 times)
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Moyamoya Disease Genetic Research Update
Sep 15th, 2016 at 12:43pm
Moyamoya Disease Genetic Research Update

Dianna M. Milewicz, MD PhD
President George H.W. Bush Chair of Cardiovascular Research
University of Texas Health Science Center at Houston McGovern Medical School

Our research explores the specific changes in an individualís DNA that predispose them to moyamoya disease.† Since we know that these alterations in areas of the DNA known as genes can be passed through families, once we identify the genetic change that causes disease in one or more family members, we can carry out genetic testing in family members to determine who is also at risk for moyamoya disease and identify these individuals before clinical signs of the disease can be seen.† Identifying the genes responsible for moyamoya disease helps us understand the changes in arteries that can lead to moyamoya disease.† This is a crucial first step in finding drugs to treat moyamoya disease.†

This work would not be possible without you, the people who support and participate in our research studies.

This is what the over 200 moyamoya disease patients and family members participating in our research study have helped us achieve so far:

  • Identifying 4 genes that predispose to moyamoya disease using whole exome sequencing (a state of the art genetic technique that allows us to look at all 20,000 genes in an individualís DNA).
  • Whole exome sequencing 100 newly recruited individuals with moyamoya disease and their family members to rapidly find other moyamoya disease genes.
  • Analyzing the clinical family histories of 105 individuals with moyamoya disease to determine risk for other diseases that affect arteries, such as coronary artery disease (leading to heart attacks), and strokes. Our goal is to use this information to generate recommendations on screening for these diseases in family members.
  • Building worldwide collaborations with neurosurgeons, neurologists, researchers and others to accelerate research and rapidly bring benefits to patients.†
  • Increasing awareness of moyamoya disease through presentations at medical/research meetings as well as public platforms.† My TEDx talk can be seen here: //www.youtube.com/watch?v=h6gDDHTP4P8.

This is how you can contribute:

If your family has not participated in our research on the genetic basis of moyamoya disease, please consider joining our studies.

† †† 1. There are no costs to you to participate in the study and your information is confidential.

† †† 2. You do not need to leave home or see your doctor to participate in these studies.† You can contact our genetic counselors by phone or email.† We will discuss your medical and family history and go through the consent form with you over the phone.† The conversation usually takes about 20 minutes.† After speaking with us, if you are interested in participating then we will send out a saliva kit and shipping materials to your home address.† The saliva kit requires approximately a tablespoon of saliva.† It can be sealed and sent back to us using the pre-paid shipping material.† Once we receive it, we will enroll your family and begin collecting medical records for the study.

† †† 3. Relevant results will be reported back to you.† It can take quite some time to find new genes that lead to moyamoya disease; however, we are always actively working with our patientís samples.† If we come across a change in your DNA that we believe to be disease-causing, a genetic counselor will contact you to explain your results and assist you in coordinating follow-up for you and your family with a physician in your area.† We cannot promise that we will be able to find the gene for every individual with moyamoya disease, but we are working towards this goal.

If you want discuss participation in our research on the genetic basis of moyamoya disease, please contact:

Ginger Tsai: email: Ginger.J.Tsai@uth.tmc.edu or by phone: 713-500-6704
Stephanie Wallace: email: Stephanie.E.Wallace@uth.tmc.edu† or by phone: 713-500-7072

You drive this effort and your participation makes this research possible. Funding for the research is provided by the National Institutes of Health, and private foundations, including the Vivian L Smith Foundation and the Henrietta B. and Frederick H. Bugher Foundation.

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Adversity does not build character... it reveals it... †I help my neighbor and my neighbor helps someone else. Life is a wonderful circle!
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